Article
Mutations in CIZ1 cause adult onset primary cervical dystonia.
Annals of neurology - 1 Apr 2012
Xiao Jianfeng, Uitti Ryan J, Zhao Yu, Vemula Satya R, Perlmutter Joel S, Wszolek Zbigniew K, Maraganore Demetrius M, Auburger Georg, Leube Barbara, Lehnhoff Katja, LeDoux Mark S
Abstract excerpt
OBJECTIVE: Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal mutation in a family with adult onset, primary cervical dystonia. METHODS: Linkage and haplotype analyses were combined with solution-based whole-exome capture and massively parallel sequencing in a large Caucasian pedigree with adult onset, primary cervical...
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